PRECISION AND COMPUTATIONAL DIAGNOSTICS

Molecular Pathology

Molecular Pathology Webpage Code:

The Molecular Pathology Laboratory specializes in targeted single gene and small panel testing using DNA and/or RNA for a variety of clinical indications in molecular genetics, molecular oncology, identity testing, and molecular virology. Technologies include real-time PCR and reverse transcription PCR, genotyping, methylation analysis, capillary electrophoresis, pyrosequencing, and next generation sequencing.

Identity Testing

    • Chimerism analysis, performed using short tandem repeat PCR, supports the active bone marrow transplant service at Penn Medicine. The laboratory has 20 years of experience with the technical and analytical aspects of chimerism analysis, including for reduced-intensity and cord blood transplants. Cellular subset analysis is performed for CD3+ and CD33/CD66b+ subset samples.  
    • Additional applications of identity testing available include maternal cell contamination, assessment of graft-versus-host disease, assessment of recipient versus donor origin of tumor, hydatidiform molar evaluation, and sample identification.

    Molecular Oncology Testing

      • Comprehensive qualitative and quantitative molecular oncology testing is available for diagnosis, disease monitoring, and therapeutic decision-making.
      • A variety of assays, including MGMT methylation analysis by pyrosequencing and BCR::ABL1 quantitative PCR, are offered to detect common genetic alterations in solid and hematologic malignancies. 
      • Clonality assessment for T-cell and B-cells is offered by next-generation sequencing and PCR-capillary electrophoresis, respectively. 
      • The Molecular Pathology Laboratory works in conjunction with the Center for Personalized Diagnostics for the testing of molecular oncology specimens. 

      Molecular Virology Testing

        • Molecular testing is performed for the identification of specific viral infections, including common respiratory pathogens such as influenza A/B and respiratory syncytial virus. 
        • For selected viruses, the laboratory offers quantitative assessment of viral infections and monitoring of viral loads.  
        • Genotyping of hepatitis C and human papillomavirus is also available.
        • The Molecular Pathology Laboratory works in conjunction with the Rittenhouse Molecular Laboratory for the testing of infectious disease specimens. 

        Inherited Disorders

          • Diagnostic and predictive testing for frontotemporal dementia and ALS (C9orf72 expansion analysis) and Huntington disease (HTT repeat testing) supports the Neurogenetics program at Penn Medicine. 
          • Testing for Factor II (Prothrombin) and Factor V assay to predict predisposition to venous thrombosis.